| 17-beta-hydroxysteroiddehydrogenase deficiëntie |
HSD17B3 |
605573 |
|
| 3 MC syndroom |
MASP1 |
600521 |
|
| 46,XX sex reversal 1 |
SRY |
480000 |
|
| 46,XX sex reversal 4 |
NR5A1 |
184757 |
|
| 46,XY sex reversal 2 |
SRY |
480000 |
|
| 46,XY sex reversal 3 |
NR5A1 |
184757 |
|
| 5-alpha-reductase deficiëntie type 2 (PPSH) |
SRD5A2 |
607306 |
|
| Aceruloplasminemie |
CP |
117700 |
|
| Achondrogenese type IB |
SLC26A2 |
606718 |
|
| Achondroplasie |
FGFR3 |
134934 |
|
| Acute intermitterende porfyrie |
HMBS |
609806 |
|
| Acute myeloïde leukemie |
GATA2 |
137295 |
|
| Agnathia-otocephalie |
PRRX1 |
167420 |
|
| Alagille syndroom 1 (ALGS1) |
JAG1 |
601920 |
|
| Alagille syndroom 2 (ALGS2) |
NOTCH2 |
600275 |
|
| Alfa-mannosidose |
MAN2B1 |
609458 |
|
| Allan Herndon Dudley syndroom |
SLC16A2 |
300095 |
|
| Alpha -1- antitrypsine deficiëntie |
SERPINA1 (AAT) |
613490 |
|
| Alternerende hemiplegie op de kinderleeftijd 2 |
ATP1A3 |
182350 |
|
| Alzheimer, familiaire preseniele ziekte van |
APP |
104760 |
|
| Alzheimer, familiaire preseniele ziekte van |
PSEN1 |
104311 |
|
| Alzheimer, familiaire preseniele ziekte van |
PSEN2 |
600759 |
|
| Alzheimer, familiaire preseniele ziekte van |
TREM2 |
600759 |
|
| Androgeen ongevoeligheids syndroom |
AR |
313700 |
|
| Aneurysma, familiair 6 (TAAD) |
ACTA2 |
102620 |
|
| Aneurysma, familiair 7 (TAAD) |
MYLK |
600922 |
|
| Angelman syndroom (methylering) |
Methylering |
601623 |
|
| Angelman syndroom (mutatieanalyse) |
UBE3A |
601623 |
|
| Angelman-like syndroom |
SLC9A6 |
300231 |
|
| Apert syndroom |
FGFR2 |
176943 |
|
| Aspertylglucosaminidase deficiency |
AGA |
613228 |
|
| Ataxie oculomotore apraxie(AOA/AOA1) |
APTX |
606350 |
|
| Atelosteogenese type II |
SLC26A2 |
606718 |
|
| Atrium septum defect 2 (ASD2) |
GATA4 |
600576 |
|
| Atrium septum defect 4 (ASD4) |
TBX20 |
606061 |
|
| Atrium septum defect 5 (ASD5) |
ACTC1 |
102540 |
|
| Atrium septum defect 7 (ASD7) met of zonder atrioventriculaire geleidingsstoornis |
NKX2-5 |
600584 |
|
| Atrium septum defect 9 (ASD9) |
GATA6 |
601656 |
|
| Azoöspermie/oligospermie |
CFTR |
602421 |
|
| Azoöspermie/oligospermie (Y-deleties) |
AZF genen |
400003 |
|
| BAP1 tumor predispositie syndroom |
BAP1 |
603089 |
|
| Barth syndroom |
TAZ |
300394 |
|
| Benigne familiaire infantiele convulsies (BFIC) |
PRRT2 |
614386 |
|
| Best, ziekte van |
BEST1 |
607854 |
|
| Bijnierinsufficiëntie |
NR5A1 |
184757 |
|
| Biotinidase deficiency |
BTD |
609019 |
|
| Borst -en ovariumkanker |
BRIP1 |
605882 |
|
| Borst -en ovariumkanker |
PALB2 |
610355 |
|
| Borst -en ovariumkanker |
RAD51C |
602774 |
|
| Borst -en ovariumkanker |
RAD51D |
602954 |
|
| Borst -en ovariumkanker, erfelijke, type 1 |
BRCA1 |
113705 |
|
| Borst -en ovariumkanker, erfelijke, type 2 |
BRCA2 |
600185 |
|
| Brachydactyly type A1 |
IHH |
600726 |
|
| Brachydactyly type B2 |
NOG |
602991 |
|
| Brachydactyly type C |
BMPR1B |
603248 |
|
| Brachydactyly type C |
GDF5 |
601146 |
|
| Brachydactyly type D |
HOXD13 |
142989 |
|
| Brachydactyly type E1 |
HOXD13 |
142989 |
|
| Brachydactyly type E2 |
PTHLH |
168470 |
|
| Branchiootorenal (BOR) syndroom 1 |
EYA1 |
601653 |
|
| Brooke-Spiegler syndroom |
CYLD |
605018 |
|
| Burn-McKeown syndroom |
TXNL4A |
611595 |
|
| Campomele dysplasie |
SOX9 |
608160 |
|
| Campomele dysplasie met autosomal sex reversal |
SOX9 |
608160 |
|
| Camptodactylie-arthropathie-coxa vara-pericarditis syndroom |
PRG4 |
604283 |
|
| CAPOS syndroom |
ATP1A3 |
182350 |
|
| Carbamoyl fosfaat synthase I deficientie |
CPS1 |
608307 |
|
| Carbonic anhydrase deficientie |
CA5A |
114761 |
|
| Cardiale Valvulaire Dysplasie, XL CVD1 |
FLNA (FLN1) |
300017 |
|
| CBAVD, CUAVD (Vas deferens aplasie) |
ADGRG2 |
300572 |
|
| CBAVD, CUAVD (Vas deferens aplasie) |
CFTR |
602421 |
|
| CBAVD, CUAVD (Vas deferens aplasie), SEQ |
CFTR |
602421 |
|
| Centrale areolaire choriodystrofie (CACD) |
PRPH2 |
179605 |
|
| Cerebrale Amyloid Angiopathie |
APP |
104760 |
|
| Cerebrale caverneuze hemangiomen 1 (CCM1) |
CCM1 (KRIT1) |
604214 |
|
| Cerebrale caverneuze hemangiomen 2 (CCM2) |
CCM2 (C7orf22, MGC4607) |
607929 |
|
| Cerebrale caverneuze hemangiomen 3 (CCM3) |
PDCD10 |
609118 |
|
| CHARGE syndroom |
CHD7 |
608892 |
|
| Clove syndroom |
PIK3CA |
171834 |
|
| Cockayne Syndrome B |
ERCC6 |
609413 |
|
| Cockayne Syndroom (Xeroderma pigmentosum G) |
ERCC5 |
133530 |
|
| Cockayne Syndroom A |
ERCC8 |
609412 |
|
| Congenital hypo thyroidism unspecified (schildkliergenen) |
TSHR |
603372 |
|
| Coproporfyrie |
CPOX (CPO) |
612732 |
|
| Costello syndroom |
HRAS |
190020 |
|
| Craniofrontonasale dysplasie |
EFNB1 |
300035 |
|
| Craniosynostose |
BCL11B |
606558 |
|
| Craniosynostose |
FGFR1 |
136350 |
|
| Craniosynostose |
FGFR2 |
176943 |
|
| Craniosynostose |
FGFR3 |
134934 |
|
| Craniosynostose en tandheelkundige afwijkingen |
IL11RA |
600939 |
|
| Craniosynostose type 1 |
TWIST1 |
601622 |
|
| Craniosynostose type 2 |
MSX2 |
123101 |
|
| Craniosynostose type 3 |
TCF12 |
600480 |
|
| Craniosynostose type 4 |
ERF |
611888 |
|
| Craniosynostose type 6 |
ZIC1 |
600470 |
|
| Crigler Najjar syndroom |
UGT1A1 |
191740 |
|
| Crouzon syndroom |
FGFR2 |
176943 |
|
| Crouzon syndroom Acanthosis Nigricans |
FGFR3 |
134934 |
|
| Cutis Laxa |
EFEMP2 |
604633 |
|
| Cylindromatose, familiaire |
CYLD |
605018 |
|
| Cystische Fibrose (sequentieanalyse) |
CFTR |
602421 |
|
| Cystische Fibrose (Standaard: Inno-Lipa CFTR 19 + 17) |
CFTR |
602421 |
|
| Danon disease |
LAMP2 |
309060 |
|
| Darmkanker, familiaire adenomateuze polyposis coli (FAP) |
SMAD4 |
604933 |
|
| Darmkanker, familiaire adenomateuze polyposis coli (FAP) |
APC |
611731 |
|
| Darmkanker, familiaire adenomateuze polyposis coli (FAP) |
BMPR1A |
604933 |
|
| Darmkanker, familiaire adenomateuze polyposis coli (FAP) |
MUTYH (MYH) |
604933 |
|
| Darmkanker, familiaire adenomateuze polyposis coli (FAP) |
NTHL1 |
604933 |
|
| Dentatorubrale-pallidoluysian atrofie (DRPLA) |
ATN1 |
607462 |
|
| Diastrofische dysplasie |
SLC26A2 |
606718 |
|
| DICER1 syndroom |
DICER1 |
606241 |
|
| Doofheid, lage tonen (DFNA6/14/38) |
WFS1 |
606201 |
|
| Doofheid, progressieve (DFNA2) |
KCNQ4 |
603537 |
|
| Doofheid, progressieve met/zonder vestibulaire dysfunctie, adult onset (DFNA9) |
COCH |
603196 |
|
| Doofheid, vroegkinderlijke (DFNB1) |
GJB2 |
121011 |
|
| Doofheid, vroegkinderlijke (DFNB1) |
GJB6 |
604418 |
|
| Doofheid, vroegkinderlijke (DFNB4) |
SLC26A4 |
605646 |
|
| Double cortex syndroom |
DCX |
300121 |
|
| Dystonie 12 |
ATP1A3 |
182350 |
|
| Ehlers-Danlos syndrome, vascular type |
COL3A1 |
120180 |
|
| Emberger’s syndroom |
GATA2 |
137295 |
|
| Episodische kinesiogene dyskinesie 1 |
PRRT2 |
614386 |
|
| Erythropoëtische protoporfyrie (EPP) |
FECH |
612386 |
|
| Fabry, ziekte van (angiokeratoma diffuse xl) |
GLA |
300644 |
|
| Ferguson-Smith disease |
TGFBR1 |
190181 |
|
| Foramina parietalia permagna ad |
MSX2 |
123101 |
|
| Fragiele X syndroom type A (mentale retardatie) |
FMR1 |
309550 |
|
| Fragiele X tremor ataxie syndroom (FXTAS) |
FMR1 |
309550 |
|
| Frasier syndroom |
WT1 |
607102 |
|
| Friedreichs Ataxie (FRDA) |
FXN |
606829 |
|
| Frontometafyseale dysplasie, XL |
FLNA (FLN1) |
300017 |
|
| Frontonasal dysplasia 1 |
ALX3 |
606014 |
|
| Frontonasal dysplasia 2 |
ALX4 |
605420 |
|
| Frontotemporale dementie (ziekte van Pick) |
C9orf72 |
614260 |
|
| Frontotemporale dementie (ziekte van Pick) |
CHMP2B |
609512 |
|
| Frontotemporale dementie (ziekte van Pick) |
GRN |
138945 |
|
| Frontotemporale dementie (ziekte van Pick) |
MAPT (TAU) |
157140 |
|
| Frontotemporale dementie (ziekte van Pick) |
PRKAR1B |
176911 |
|
| Gaucher, ziekte van |
GBA |
606463 |
|
| Gilbert syndroom |
UGT1A1 |
191740 |
|
| Glycogen storage disease type 2 |
GAA |
606800 |
|
| Glycogen storage disease type 2b |
LAMP2 |
309060 |
|
| Glycogen storage disease type 4 |
GBE1 |
607839 |
|
| Glycogen storage disease type 6 |
PYGL |
613741 |
|
| Glycogenose IX (GSG IX) |
PHKA1 |
311870 |
|
| Glycogenose IX (GSG IX) |
PHKA2 |
300798 |
|
| Glycogenose IX (GSG IX) |
PHKB |
172490 |
|
| Glycogenose IX (GSG IX) |
PHKG1 |
172470 |
|
| Glycogenose IX (GSG IX) |
PHKG2 |
172471 |
|
| GM1-gangliosidose (Beta-galactosidase-1 deficiency) |
GLB1 |
611458 |
|
| GM3 synthase deficientie |
ST3GAL5 |
604402 |
|
| Goiter multinodulair 1 |
DICER1 |
606241 |
|
| Goiter multinodulair 1 |
KEAP1 |
606016 |
|
| Goldberg-Shprintzen syndroom |
KIF1BP (KIAA1279) |
609367 |
|
| Gonadale dysgenesie |
WT1 |
607102 |
|
| Greig syndroom (cefalopolysyndactylie syndroom, GCPS) |
GLI3 |
165240 |
|
| Haydu-Cheney syndroom |
NOTCH2 (alleen exon 34) |
600275 |
|
| Hers, ziekte van |
PYGL |
613741 |
|
| Holt-Oram syndroom |
TBX5 |
601620 |
|
| Hunter syndroom (MPSII) |
IDS |
300823 |
|
| Hurler syndroom (MPSI) |
IDUA |
252800 |
|
| Hurler-Scheie syndroom (MPSI) |
IDUA |
252800 |
|
| Dystonie 1, met hypermanganesemie |
SLC30A10 |
613280 |
|
| Hypermobility syndrome/bindweefselziekte |
TGFBR1 |
190181 |
|
| Hypermobility syndrome/bindweefselziekte |
TGFBR2 |
190182 |
|
| Hypochondroplasie |
FGFR3 |
134934 |
|
| Hypofosfatasia |
ALPL |
171760 |
|
| Jackson Weiss syndroom |
FGFR2 |
176943 |
|
| Kennedy, ziekte van (SBMA) |
AR |
313700 |
|
| Klippel - Feil syndroom type 1 |
GDF6 |
601147 |
|
| Klippel - Feil syndroom type 2 |
MEOX1 |
600147 |
|
| Klippel - Feil syndroom type 3 |
GDF3 |
606522 |
|
| Krabbe, ziekte van |
GALC |
606890 |
|
| Kufor-Rakeb syndroom |
ATP13A2 |
606693 |
|
| Legius syndroom |
SPRED1 |
609291 |
|
| Leverfosforylase deficiëntie |
PYGL |
613741 |
|
| Lewy Body dementie |
SNCA |
163890 |
|
| Leydig cel hypoplasie (inactiverende mutaties) |
LHCGR |
152790 |
|
| Li-Fraumeni syndroom |
TP53 |
191170 |
|
| Lipodystrofie |
LMNA |
150330 |
|
| Lissencephaly syndroom, Norman-Roberts type |
RELN |
600514 |
|
| Lissencephaly, type 1 |
LIS1 (PAFAH1B1) |
607432 |
|
| Lissencephaly, type 3 |
TUBA1A (LIS3) |
602529 |
|
| Loeys-Dietz syndroom 1 |
TGFBR1 |
190181 |
|
| Loeys-Dietz syndroom 2 |
TGFBR2 |
190182 |
|
| Loeys-Dietz syndroom 3 |
SMAD3 |
603109 |
|
| Loeys-Dietz syndroom 4 |
TGFB2 |
190220 |
|
| Loeys-Dietz syndroom 5 |
TGFB3 |
190230 |
|
| Löwe syndroom (oculo-cerebro-renaal syndroom) |
OCRL |
300535 |
|
| Maligne rhabdoide tumoren |
SMARCB1 (SNF5) |
601607 |
|
| Mandibulofaciale dysostosis met microcefalie |
EFTUD2 |
603892 |
|
| Mannelijke infertiliteit |
NR5A1 |
184757 |
|
| Marfan syndroom |
FBN1 |
134797 |
|
| Marfan syndroom |
TGFBR1 |
190181 |
|
| Marfan syndroom |
TGFBR2 |
190182 |
|
| Megalencefalie-polymicrogyrie-polydactylie-hydrocefalus syndroom |
PIK3CA |
171834 |
|
| Megalencefalie-polymicrogyrie-polydactylie-hydrocefalus syndroom |
PIK3R2 |
603157 |
|
| Melnick-Needles syndroom, XL |
FLNA (FLN1) |
300017 |
|
| Menkes, ziekte van |
ATP7A |
300011 |
|
| Mentale retardatie met epilepsie, X-gebonden |
ARX |
300382 |
|
| Mentale retardatie, X-gebonden, syndromale, Christianson type |
SLC9A6 |
300231 |
|
| Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) |
RNU4ATAC |
601428 |
|
| Moyamoya disease 5 |
ACTA2 |
102620 |
|
| Mucolipidosis type II alpha/beta |
GNPTAB |
607840 |
|
| Mucolipidosis type III alpha/beta |
GNPTAB |
607840 |
|
| Mucolipidosis type III gamma |
GNPTG |
607838 |
|
| Mucopolysaccharidose I (Hurler/Scheie, ziekte van) |
IDUA |
252800 |
|
| Mucopolysaccharidose II (Hunter syndroom) |
IDS |
300823 |
|
| Mucopolysaccharidose IIIa (San Filippo A) |
SGSH |
605270 |
|
| Mucopolysaccharidose IIIb (San Filippo B) |
NAGLU |
609701 |
|
| Mucopolysaccharidose IIIc (San Filippo C) |
HGSNAT |
610453 |
|
| Mucopolysaccharidose IIId (San Filippo D) |
GNS |
607664 |
|
| Mucopolysaccharidose IVA (Morquio A) |
GALNS |
612222 |
|
| Mucopolysaccharidose IVB (Morquio B) (Beta-galactosidose-1 deficiency) |
GLB1 |
611458 |
|
| Mucopolysaccharidose VI (Arylsulfatase B deficiency) |
ARSB |
611542 |
|
| Mucopolysaccharidose VII (Sly syndroom) |
GUSB |
611499 |
|
| Muenke syndroom |
FGFR3 |
134934 |
|
| Multipele epifysaire dysplasie (rMED) |
SLC26A2 |
606718 |
|
| Myelodysplatisch syndroom |
GATA2 |
137295 |
|
| Myofibrillaire myopathie |
DES |
125660 |
|
| Myofibrillaire myopathie |
LDB3 |
605906 |
|
| N-acetylglutamate synthase deficientie |
NAGS |
608300 |
|
| Neuroblastoom, familiair |
ALK |
105590 |
|
| Neurodegeneratie met ijzerafzetting in de hersenen (NBIA) |
WDR45 |
300526 |
|
| Neurofibromatosis type 1 |
NF1 |
613113 |
|
| Neurofibromatosis type 2 |
NF2 |
607379 |
|
| Niemann Pick C, ziekte van |
NPC1 |
607623 |
|
| Niemann Pick C, ziekte van |
NPC2 |
601015 |
|
| Niercel carcinoom |
FH |
136850 |
|
| Niercel carcinoom |
FLCN |
607273 |
|
| Okihiro syndroom (Duane-radial-ray syndroom) |
SALL4 |
607343 |
|
| Ornithine transcarbamylase deficientie (OTC) |
OTC |
300461 |
|
| Otoplalatodigitaalsyndroom, type I (OPD1) |
FLNA (FLN1) |
300017 |
|
| Otoplalatodigitaalsyndroom, type II (OPD2) |
FLNA (FLN1) |
300017 |
|
| Pallister Hall syndroom |
GLI3 |
165240 |
|
| Parietal foramina 1 (PFM1) |
MSX2 |
123101 |
|
| Parietal foramina 2 (PFM2) |
ALX4 |
605420 |
|
| Parkinson, ziekte van, type 1 (PARK1) |
SNCA |
163890 |
|
| Parkinson, ziekte van, type 15 (PARK15) |
FBXO7 |
605648 |
|
| Parkinson, ziekte van, type 2 (PARK2) |
PRKN (PARK2/PARKIN) |
602544 |
|
| Parkinson, ziekte van, type 4 (PARK4) |
SNCA |
163890 |
|
| Parkinson, ziekte van, type 6 (PARK6) |
PINK1 |
608309 |
|
| Parkinson, ziekte van, type 7 (PARK7) |
PARK7 (DJ1) |
602533 |
|
| Parkinson, ziekte van, type 8 (PARK8) |
LRRK2 |
609007 |
|
| Parkinson, ziekte van, type 9 (PARK9) |
ATP13A2 |
606693 |
|
| Paroxismale kinesiogene dyskinesie (PKD) |
PRRT2 |
614386 |
|
| Pendred syndroom |
SLC26A4 |
605646 |
|
| Periventriculaire heterotopie + microcefalie (AR) |
ARFGEF2 |
605371 |
|
| Periventriculaire nodulaire heterotopie (XL) |
FLNA (FLN1) |
300017 |
|
| Persistant mullerian duct syndrome ar |
AMH (PMDS) |
600957 |
|
| Peutz-Jeghers syndroom |
STK11 (LKB1) |
602216 |
|
| Pfeiffer syndroom |
FGFR1 |
136350 |
|
| Pfeiffer syndroom |
FGFR2 |
176943 |
|
| Phenylketonurie (PKU) |
PAH |
612349 |
|
| Pleuropulmonary blastoma |
DICER1 |
606241 |
|
| Polymicrogyrie |
WDR62 |
613583 |
|
| Polymicrogyrie |
ADGRG1 (GPR56) |
604110 |
|
| Polymicrogyrie |
RTTN |
610436 |
|
| Polymicrogyrie |
TUBA1A |
602529 |
|
| Polymicrogyrie |
VLDLR |
192977 |
|
| Pompe, ziekte van (glycogeenstapelingsziekte type 2) |
GAA |
606800 |
|
| Porencephaly, erfelijke |
COL4A1 |
120130 |
|
| Porencephaly, erfelijke |
COL4A2 |
120090 |
|
| Porfyrie, acute intermitterende |
HMBS |
609806 |
|
| Porfyrie, coproporfyrie |
CPOX (CPO) |
612732 |
|
| Porfyrie, cutanea tarda |
UROD |
613521 |
|
| Porfyrie, erythropoëtische protoporfyrie (EPP) |
FECH |
612386 |
|
| Porfyrie, variegata |
PPOX |
600923 |
|
| Prader Willi syndroom |
Methylering |
182279 |
|
| Precocious puberteit (mannen, activerende mutaties) |
LHCGR |
152790 |
|
| Prematuur ovarieel falen |
NR5A1 |
184757 |
|
| Prematuur ovarieel falen |
FMR1 |
309550 |
|
| Pseudohermafroditisme, mannelijk |
HSD17B3 |
605573 |
|
| Pseudovaginale perineoscrotale hypospadie |
SRD5A2 |
607306 |
|
| PTEN Hamartoma Tumor Syndroom (PHTS) |
PTEN |
601728 |
|
| Retinitis pigmentosa 19 |
ABCA4 |
601691 |
|
| Retinitis pigmentosa 4 |
RHO |
180380 |
|
| Rett syndroom |
MECP2 |
300005 |
|
| Rett syndroom, Epileptic encephalopathy, early infantile, 2 |
CDKL5 |
300203 |
|
| Saethre Chotzen syndroom |
FGFR3 |
134934 |
|
| Saethre Chotzen syndroom |
TWIST1 |
601622 |
|
| Salla, ziekte van / Infantile Sialic Acid Storage Disease |
SLC17A5 |
604322 |
|
| Scheie syndroom (MPSI) |
IDUA |
252800 |
|
| Schwannomatose |
LZTR1 |
600574 |
|
| Schwannomatose |
SMARCB1 (SNF5) |
601607 |
|
| Silver-Russell syndroom (Uniparentale disomie chr 7 (UPD7)), markers |
nvt |
- |
|
| Silver-Russell syndroom (Uniparentale disomie chr 7 (UPD7)), methylering |
nvt |
- |
|
| Sly syndroom (Mucopolysaccharidose VI) |
GUSB |
611499 |
|
| Spastische paraplegie 78 |
ATP13A2 |
606693 |
|
| Spinale musculaire atrofie (SMAX3) |
ATP7A |
300011 |
|
| Spinocerebellaire ataxie 1 (SCA1) |
ATXN1 |
601556 |
|
| Spinocerebellaire ataxie 12 (SCA12) |
PPP2R2B |
607640 |
|
| Spinocerebellaire ataxie 17 (SCA17) |
TBP |
607640 |
|
| Spinocerebellaire ataxie 2 (SCA2) |
ATXN2 |
601517 |
|
| Spinocerebellaire ataxie 27 (SCA27) |
FGF14 |
601515 |
|
| Spinocerebellaire ataxie 3 (MJD) (ziekte van Machado Joseph) |
ATXN3 |
607047 |
|
| Spinocerebellaire ataxie 6 (SCA6) |
CACNA1A |
601011 |
|
| Spinocerebellaire ataxie 7 (SCA7) |
ATXN7 |
607640 |
|
| Spinocerebellaire ataxie pakket (SCA 1, 2, 3(MJD), 6 en 7) |
ATXN1, ATXN2, ATXN3, ATXN7 en CACNA1A |
|
|
| Spinocerebellaire ataxie pluspakket (SCA 1, 2, 3(MJD), 6, 7, 12 en 17) |
ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, PPP2R2B en TBP |
|
|
| Stargardt, ziekte van |
ABCA4 |
601691 |
|
| Tetralogie van Fallot |
GATA4 |
600576 |
|
| Tetralogie van Fallot |
JAG1 |
601920 |
|
| Tetralogie van Fallot |
NKX2.5 |
600584 |
|
| Tetralogie van Fallot |
GATA6 |
601656 |
|
| Thanatofore dysplasie type 1 |
FGFR3 |
134934 |
|
| Thanatofore dysplasie type 2 |
FGFR3 |
134934 |
|
| Townes-Brocks syndroom |
SALL1 |
602218 |
|
| Treacher Collins syndroom |
POLR1C |
610060 |
|
| Treacher Collins syndroom |
POLR1D |
613715 |
|
| Treacher Collins syndroom |
TCOF1 |
606847 |
|
| Trichothiodystrofie 1, fotosensitief |
ERCC2 |
126340 |
|
| Trichothiodystrofie 2, fotosensitief |
ERCC3 |
133510 |
|
| Trichothiodystrofie 3, fotosensitief |
GTF2H5 |
608780 |
|
| Trichothiodystrofie 4, niet fotosensitief |
MPLKIP |
609188 |
|
| Trifalangeale duimen (St Willebrord) Polydactyly, preaxiaal II (PPD2) |
LMBR1 (ZRS) |
600725 |
|
| Tubereuze Sclerose Complex type 1 |
TSC1 |
605284 |
|
| Tubereuze Sclerose Complex type 2 |
TSC2 |
191092 |
|
| Turner syndroom (SRY-PCR tweede weefsel) |
SRY |
480000 |
|
| Uniparentale disomie chr 14 (UPD14), markers |
n.v.t. |
- |
|
| Uniparentale disomie chr 14 (UPD14), methylering |
n.v.t. |
- |
|
| Uniparentale disomie chr 15 (UPD15), markers, zie Prader -Willi syndroom of Angelman syndroom |
|
|
|
| Uniparentale disomie chr 7 (UPD7) (Silver-Russell syndroom), markers |
nvt |
- |
|
| Uniparentale disomie chr 7 (UPD7) (Silver-Russell syndroom), methylering |
nvt |
- |
|
| Urofaciaal syndroom type 2 |
LRIG2 |
608869 |
|
| Uveamelanoom, erfelijke |
BAP1 |
603089 |
|
| VATER ass. Of VACTERL ass. |
SALL1 |
602218 |
|
| Vitelliforme maculadystrofie 2 (VMD2) |
BEST1 |
607854 |
|
| Von Hippel Lindau syndroom |
VHL |
608537 |
|
| Wilms tumor |
WT1 |
607102 |
|
| Wolff Parkinson White Syndroom |
PRKAG2 |
602743 |
|
| Xeroderma pigmentosum A |
XPA |
611153 |
|
| Xeroderma pigmentosum B |
ERCC3 |
133510 |
|
| Xeroderma pigmentosum D |
ERCC2 |
126340 |
|
| Xeroderma pigmentosum G |
ERCC5 |
133530 |
|
| X-linked myopathy with postural muscle atrophy and generalized hypertrophy (XMPMA) |
FHL1 |
300163 |
|
| X-linked scapuloperoneale myopathie (XSPM) |
FHL1 |
300163 |
|